Diblík Jan, Macek Milan, Magli M Cristina, Krejcí Roman, Gianaroli Luca
Center of Reproductive Genetics, Institute of Biology and Medical Genetics, Charles University, 2nd School of Medicine, University Hospital Motol, Prague, Czech Republic.
Prenat Diagn. 2007 Dec;27(12):1091-9. doi: 10.1002/pd.1834.
To find whether chromosomes 13, 16, 18, 21, 22, X and Y in blastomeres of human embryos are nonrandomly localized, whether their aneuploidy affects their localization and if eventual early inactivation of chromosome X with peripheral localization is present.
Relative distances from the nucleus center and edge of 1,198 fluorescence in situ hybridization signals in 98 human blastomeres were measured in digital images for comparison with a mathematical model of random distribution in spherical nucleus.
Comparison with the mathematical model revealed that localization of chromosomes 13, 16, 21, 22, X and Y in normal and aneuploid blastomeres and that of chromosome 18 in normal blastomeres was not significantly different from random distribution. Similarly, chromosome X in blastomeres with more than one X did not appear to have a preferential localization. Only chromosome 18 in aneuploid blastomeres was differently distributed (p < 0.0001) with a shift to the nuclear periphery (p =or < 0.0001).
Peripheral localization of chromosome 18 in aneuploid blastomeres is related to embryo aneuploidy. Conversely, a peripheral localization of the inactive X chromosome was not found in blastomeres from 3-4 day old embryos. These results open the possibility to improve embryo selection after pre-implantation diagnosis.
探究人类胚胎卵裂球中13、16、18、21、22、X和Y染色体是否存在非随机定位，其非整倍性是否会影响定位，以及是否存在X染色体早期失活并伴有外周定位的情况。
在数字图像中测量了98个人类卵裂球中1198个荧光原位杂交信号距细胞核中心和边缘的相对距离，以便与球形细胞核中随机分布的数学模型进行比较。
与数学模型比较发现，正常和非整倍体卵裂球中13、16、21、22、X和Y染色体的定位以及正常卵裂球中18号染色体的定位与随机分布无显著差异。同样，具有多个X染色体的卵裂球中的X染色体似乎也没有优先定位。只有非整倍体卵裂球中的18号染色体分布不同（p < 0.0001），向核周边偏移（p ≤ 0.0001）。
非整倍体卵裂球中18号染色体的外周定位与胚胎非整倍性有关。相反，在3 - 4日龄胚胎的卵裂球中未发现失活X染色体的外周定位。这些结果为改善植入前诊断后的胚胎选择提供了可能性。
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